Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356529
rs80356529
OPA1
0.030 GeneticVariation BEFREE In contrast, the association of autosomal dominant OA and SNHL without other phenotypic abnormalities is rare, and almost exclusively attributed to mutations in the Optic Atrophy-1 gene (OPA1), most commonly the p.R445H mutation. 21538838

2011
dbSNP: rs80356529
rs80356529
OPA1
0.030 GeneticVariation BEFREE OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. 16240368

2005
dbSNP: rs80356529
rs80356529
OPA1
0.030 GeneticVariation BEFREE One patient with optic atrophy had a heterozygous Arg445His mutation in the OPA1 gene. 12566046

2003